Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02074.hp2 HG02622.hp1 others(1): Show HG00280.hp2 HG02074.hp2 HG02622.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0008 a0001c0002t0035 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0035 a0001c0004t0036	a0001c0001t0002g0175 a0001c0001t0008g0195 a0001c0002t0035g0187 others(1): Show a0001c0001t0002g0175 a0001c0001t0008g0195 a0001c0002t0035g0187 a0001c0004t0036g0180	4	272	0.0147	19	c.-23 others(30): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGPP2_chr2_222419543_222567621	222470619	A A	AGGATTAA others(12): Show AGGATTAAGATATTGAACGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02109.hp2 others(11): Show HG01109.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02922.hp1 HG03098.hp1 HG03139.hp2 HG03540.hp1 NA18974.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0001c0013	a0001c0001t0001 a0001c0001t0017 a0001c0001t0097 others(10): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0097 a0001c0001t0098 a0001c0002t0019 a0001c0003t0022 a0001c0003t0071 a0001c0003t0087 a0001c0005t0036 a0001c0005t0089 a0001c0010t0018 a0001c0011t0035 a0001c0013t0009	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0017g0188 others(11): Show a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0017g0188 a0001c0001t0097g0157 a0001c0001t0098g0133 a0001c0002t0019g0162 a0001c0003t0022g0190 a0001c0003t0071g0160 a0001c0003t0087g0237 a0001c0005t0036g0244 a0001c0005t0089g0111 a0001c0010t0018g0259 a0001c0011t0035g0002 a0001c0013t0009g0033	14	272	0.0515	19	c.220 others(36): Show c.220-3947_220-3946insATTAAGATATTGAACGTGG	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGPP2_chr2_222419543_222567621	222556795	T T	TCCCCATC others(12): Show TCCCCATCCACCCTCACTCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0093 a0001c0001t0100g0093	1	272	0.0037	19	c.649 others(36): Show c.649-1552_649-1551insCCCCATCCACCCTCACTCC	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4			chr2	TogoVar
SGSM1_chr22_24801211_24932578	24822088	C C	CTCTTTTT others(12): Show CTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0087 a0002c0002t0003g0087	1	338	0.0030	19	c.63+ others(36): Show c.63+15605_63+15606insCTTTTTTTTTTTTTTTTTT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860912	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	338	0.0030	19	c.926 others(36): Show c.926+1072_926+1073insTATATATATATATATATAT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24			chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860916	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0002 a0011c0024t0002	a0011c0024t0002g0219 a0011c0024t0002g0219	1	338	0.0030	19	c.926 others(36): Show c.926+1076_926+1077insTATATATATATATATATAT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24			chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860922	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0074 a0001c0007t0015g0074	1	338	0.0030	19	c.926 others(36): Show c.926+1083_926+1084insAAATATATATATATATATA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM2_chr17_2332501_2386054	2359682	G G	GCCGGCCA others(12): Show GCCGGCCACTCCCCAGTCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	422	0.0024	19	c.134 others(36): Show c.134-1953_134-1935dupCGGCCACTCCCCAGTCCCC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGTB_chr5_65660928_65727109	65683684	G G	GGCTGGGC others(12): Show GGCTGGGCGCAGTGGCTAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(222): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0003t0025 a0001c0004t0003	a0001c0001t0001g0017 a0001c0001t0001g0094 a0001c0001t0001g0110 others(193): Show a0001c0001t0001g0017 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0027 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0191 a0001c0001t0002g0239 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0290 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 a0001c0001t0003g0028 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0053 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0169 a0001c0001t0003g0194 a0001c0001t0003g0264 a0001c0001t0003g0268 a0001c0001t0003g0278 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0289 a0001c0001t0004g0001 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0029 a0001c0001t0004g0032 a0001c0001t0004g0045 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0072 a0001c0001t0004g0091 a0001c0001t0004g0107 a0001c0001t0004g0134 a0001c0001t0004g0185 a0001c0001t0004g0222 a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0004g0303 a0001c0001t0004g0311 a0001c0001t0005g0090 a0001c0001t0005g0151 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0179 a0001c0001t0005g0221 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0281 a0001c0001t0007g0010 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0008g0046 a0001c0001t0008g0052 a0001c0001t0008g0062 a0001c0001t0008g0082 a0001c0001t0008g0263 a0001c0001t0009g0143 a0001c0001t0009g0144 a0001c0001t0009g0145 a0001c0001t0009g0146 a0001c0001t0009g0288 a0001c0001t0010g0306 a0001c0001t0010g0307 a0001c0001t0010g0308 a0001c0001t0010g0309 a0001c0001t0011g0019 a0001c0001t0011g0147 a0001c0001t0011g0148 a0001c0001t0012g0138 a0001c0001t0012g0164 a0001c0001t0012g0165 a0001c0001t0012g0178 a0001c0001t0013g0022 a0001c0001t0013g0287 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0015g0081 a0001c0001t0015g0193 a0001c0001t0016g0057 a0001c0001t0016g0296 a0001c0001t0017g0161 a0001c0001t0017g0168 a0001c0001t0018g0021 a0001c0001t0019g0079 a0001c0001t0019g0310 a0001c0001t0020g0018 a0001c0001t0022g0034 a0001c0001t0026g0083 a0001c0001t0028g0047 a0001c0001t0029g0068 a0001c0001t0030g0153 a0001c0001t0031g0150 a0001c0001t0032g0078 a0001c0001t0033g0294 a0001c0001t0034g0055 a0001c0001t0036g0262 a0001c0001t0037g0160 a0001c0001t0039g0104 a0001c0001t0040g0093 a0001c0001t0041g0092 a0001c0001t0042g0188 a0001c0001t0043g0106 a0001c0003t0025g0152 a0001c0004t0003g0277	225	360	0.6250	19	c.479 others(36): Show c.479+1683_479+1684insGTTAGCCACTGCGCCCAGC	SGTB	ENSG00000197860.10	transcript	ENST00000381007.9	protein_coding	6/10			chr5	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp2 NA18943.hp1 others(2): Show HG01884.hp2 HG03225.hp2 NA18943.hp1 NA18945.hp1 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0263 a0001c0001t0002g0231 a0001c0001t0002g0232 others(2): Show a0001c0001t0001g0263 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0243 a0002c0002t0002g0149	5	406	0.0123	19	c.-29 others(36): Show c.-29-1324_-29-1306dupTTTTTTTTTTTTTTTTTTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2B3_chr12_111400923_111456623	111419421	G G	GAGGCCAG others(12): Show GAGGCCAGGGGTTCAAGACC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	326	0.0031	19	c.732 others(34): Show c.732+547_732+565dupGCCAGGGGTTCAAGACCAG	SH2B3	ENSG00000111252.11	transcript	ENST00000341259.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SH2D1B_chr1_162390268_162417136	162400286	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01975.hp2 HG02040.hp2 others(4): Show HG00408.hp1 HG01975.hp2 HG02040.hp2 HG02132.hp2 NA18952.hp2 NA18959.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0216 others(4): Show a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0229	7	424	0.0165	19	c.199 others(36): Show c.199-1218_199-1200dupAAAAAAAAAAAAAAAAAAA	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	2/3			chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817044	C C	CTTTTCTC others(12): Show CTTTTCTCTCTCTCTCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	19	c.-33 others(28): Show c.-337_-336insAGAGGAGAGAGAGAGAAAA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		197		chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 NA18980.hp2 HG00642.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0005 a0001c0001t0001g0007	2	410	0.0049	19	c.-34 others(28): Show c.-340_-339insGAGAGAGAGAGAGAGAGAG	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D3C_chr9_127733317_127783666	127754821	G G	GAGGCAGA others(12): Show GAGGCAGAAACGGACCGGCA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	332	0.0030	19	c.556 others(36): Show c.556-3540_556-3522dupTGCCGGTCCGTTTCTGCCT	SH2D3C	ENSG00000095370.20	transcript	ENST00000314830.13	protein_coding	3/11			chr9	TogoVar
SH3BP4_chr2_234947017_235060714	234951859	C C	CGCCCCGC others(12): Show CGCCCCGCCCCTCTCCCGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0140 a0002c0019t0001g0140	1	348	0.0029	19	c.-51 others(28): Show c.-518_-517insGCCCCGCCCCTCTCCCGAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding		157		chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235038384	T T	TTTTATAT others(12): Show TTTTATATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03017.hp2 HG03654.hp2 HG02523.hp2 HG03017.hp2 HG03654.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0020 a0002c0001t0007 a0002c0001t0020	a0002c0001t0007g0304 a0002c0001t0007g0314 a0002c0001t0020g0032 a0002c0001t0007g0304 a0002c0001t0007g0314 a0002c0001t0020g0032	3	348	0.0086	19	c.119 others(36): Show c.119-2504_119-2503insTTTATATATATAATATATA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5			chr2	TogoVar
SH3BP5_chr3_15249353_15337586	15320605	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03688.hp1 HG03710.hp2 HG01255.hp1 HG03688.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0332 a0001c0002t0001g0203 a0001c0002t0001g0213 a0001c0001t0001g0332 a0001c0002t0001g0203 a0001c0002t0001g0213	3	376	0.0080	19	c.201 others(36): Show c.201+9898_201+9899insGTGTGTGTGTGTGTGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	2/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15320641	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0306 a0001c0002t0001g0306	1	376	0.0027	19	c.201 others(36): Show c.201+9862_201+9863insTGTGTGTGTGTGTGTGTGT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	2/8			chr3	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02615.hp2 others(7): Show HG01069.hp2 HG01071.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG03486.hp1 HG06807.hp2 NA18906.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0081 a0001c0001t0001g0233 a0001c0002t0001g0189	10	376	0.0266	19	c.769 others(36): Show c.769+4384_769+4402dupTTTTTTTTTTTTTTTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL1_chr19_4355370_4405547	4358306	T T	TTCCATCA others(12): Show TTCCATCACTCAGGACAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	358	0.0028	19	c.32 others(30): Show c.3275_*3293dupCTCTGTCCTGAGTGATGGA	SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding		2063		chr19	TogoVar
SH3GL1_chr19_4355370_4405547	4400572	G G	GCCGGCCC others(12): Show GCCGGCCCCCGCGCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	358	0.0028	19	c.-20 others(28): Show c.-205_-204insGGGCGCGCGCGGGGGCCGG	SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding		26		chr19	TogoVar
SH3GL1_chr19_4355370_4405547	4400584	G G	GCGCGCCC others(12): Show GCGCGCCCCCGGCCCCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02818.hp2 HG02896.hp1 others(5): Show HG01167.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03225.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0010t0019 a0001c0001t0001 a0001c0001t0004 a0001c0010t0019	a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0004g0311 others(5): Show a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0004g0311 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0321 a0001c0010t0019g0312	8	358	0.0224	19	c.-21 others(28): Show c.-217_-216insTGCGGGGGCCGGGGGCGCG	SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding		38		chr19	TogoVar
SH3GL2_chr9_17574066_17802124	17623045	C C	CCTTTCCT others(12): Show CCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03831.hp1 HG00140.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0002g0062 a0001c0001t0001g0093 a0001c0001t0002g0062	2	260	0.0077	19	c.45+ others(36): Show c.45+43759_45+43760insTTTCCTTTCCTTTCCTTTC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17645151	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03139.hp1 HG02027.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0157 a0001c0001t0002g0138 a0001c0001t0001g0157 a0001c0001t0002g0138	2	260	0.0077	19	c.45+ others(36): Show c.45+65877_45+65895dupTTTTTTTTTTTTTTTTTTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17758561	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	260	0.0039	19	c.115 others(36): Show c.115-2860_115-2842dupAAAAAAAAAAAAAAAAAAA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025211	G G	GGCTGCAG others(12): Show GGCTGCAGTGAGCTGAGACT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0226 a0005c0010t0001g0226	1	436	0.0023	19	c.64- others(34): Show c.64-2807_64-2789dupAGTCTCAGCTCACTGCAGC	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19531524	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0054 a0001c0006t0001g0054	1	204	0.0049	19	c.48 others(30): Show c.4892_*4893insAAAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding		2452		chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19551550	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0186 a0001c0002t0012g0186	1	204	0.0049	19	c.138 others(38): Show c.1385-1468_1385-1467insAAAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103615483	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0019 a0001c0002t0036g0019	1	250	0.0040	19	c.920 others(36): Show c.920+1713_920+1714insACACACACACACACACACA	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	11/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329083	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0029 a0004c0006t0013g0030 a0004c0006t0013g0029 a0004c0006t0013g0030	2	280	0.0071	19	c.92 others(30): Show c.9285_*9286insAAAAAAAAAAAAATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		4415		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329540	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02165.hp2 HG02257.hp2 others(2): Show HG00408.hp2 HG02165.hp2 HG02257.hp2 HG03239.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0045 a0001c0002t0009 a0001c0002t0014 others(1): Show a0001c0001t0045 a0001c0002t0009 a0001c0002t0014 a0001c0002t0025	a0001c0001t0045g0201 a0001c0002t0009g0094 a0001c0002t0014g0069 others(2): Show a0001c0001t0045g0201 a0001c0002t0009g0094 a0001c0002t0014g0069 a0001c0002t0025g0079 a0001c0002t0025g0115	5	280	0.0179	19	c.88 others(30): Show c.8828_*8829insAAAAAAAAAAAAAAAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		3958		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109146024	T T	TGGGCCGA others(12): Show TGGGCCGACGGAGTCCATGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02559.hp2 HG02572.hp2 others(9): Show HG00639.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02897.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 NA19056.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0007 a0001c0001t0009 a0001c0001t0023 others(4): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0023 a0001c0001t0024 a0001c0003t0003 a0001c0008t0012 a0001c0008t0019	a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0007g0142 others(9): Show a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0007g0142 a0001c0001t0007g0145 a0001c0001t0007g0151 a0001c0001t0009g0143 a0001c0001t0009g0152 a0001c0001t0023g0144 a0001c0001t0024g0141 a0001c0003t0003g0085 a0001c0008t0012g0150 a0001c0008t0019g0069	12	172	0.0698	19	c.573 others(38): Show c.573+15919_573+15937dupCGGAGTCCATGCGGGCCGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3YL1_chr2_213144_269032	235346	T T	TCAGGGGA others(12): Show TCAGGGGAGGCAGCATGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	360	0.0028	19	c.292 others(36): Show c.292-1093_292-1075dupGCCCATGCTGCCTCCCCTG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SH3YL1_chr2_213144_269032	235376	A A	AGCAGCAT others(12): Show AGCAGCATGGGCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(95): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03490.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG04199.hp2 HG04204.hp1 NA18939.hp2 NA18949.hp2 NA18956.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18984.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19062.hp2 NA19067.hp1 NA19068.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 a0001c0005t0002 a0001c0006t0002	a0001c0001t0001g0131 a0001c0001t0001g0191 a0001c0001t0001g0192 others(66): Show a0001c0001t0001g0131 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0008g0253 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0254 a0001c0005t0002g0243 a0001c0006t0002g0218	98	360	0.2722	19	c.292 others(36): Show c.292-1123_292-1105dupCTCCCCTGGCCCATGCTGC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SH3YL1_chr2_213144_269032	235484	C C	CGGGCCAG others(12): Show CGGGCCAGGGGAGGCAGCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01358.hp1 others(5): Show HG01243.hp1 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG01934.hp2 HG01943.hp2 HG01993.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0097 a0001c0001t0001g0098 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102	8	360	0.0222	19	c.292 others(36): Show c.292-1231_292-1213dupATGCTGCCTCCCCTGGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SH3YL1_chr2_213144_269032	235639	G G	GCATGGGC others(12): Show GCATGGGCCAGGGGAGGCAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG02559.hp2 others(2): Show HG00642.hp1 HG01109.hp2 HG02559.hp2 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0130 a0001c0001t0004g0126 a0001c0001t0004g0127 others(2): Show a0001c0001t0001g0130 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0007g0194	5	360	0.0139	19	c.292 others(36): Show c.292-1368_292-1367insTTGCCTCCCCTGGCCCATG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0066 a0001c0003t0075 a0001c0003t0102 a0001c0003t0066 a0001c0003t0075 a0001c0003t0102	a0001c0003t0066g0043 a0001c0003t0075g0289 a0001c0003t0102g0303 a0001c0003t0066g0043 a0001c0003t0075g0289 a0001c0003t0102g0303	3	316	0.0095	19	c.576 others(36): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678742	G G	GGGTCAGG others(12): Show GGGTCAGGGTGATGGGGAAA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0013 a0002c0008t0013	a0002c0008t0013g0207 a0002c0008t0013g0207	1	316	0.0032	19	c.257 others(38): Show c.2578-6647_2578-6629dupTTTCCCCATCACCCTGACC	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678761	A A	AGGTCAGG others(12): Show AGGTCAGGGTGATGGGGAGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0027 a0002c0001t0027	a0002c0001t0027g0029 a0002c0001t0027g0029	1	316	0.0032	19	c.257 others(38): Show c.2578-6666_2578-6648dupCCTCCCCATCACCCTGACC	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(12): Show GTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19090.hp1 HG02004.hp2 NA19090.hp1	a0002 a0002	a0002c0001 a0002c0008 a0002c0001 a0002c0008	a0002c0001t0001 a0002c0008t0013 a0002c0001t0001 a0002c0008t0013	a0002c0001t0001g0193 a0002c0008t0013g0207 a0002c0001t0001g0193 a0002c0008t0013g0207	2	316	0.0063	19	c.257 others(38): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50679067	A A	ATGATGGG others(12): Show ATGATGGGGAGGGGTCAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02818.hp2 others(2): Show HG01243.hp2 HG01884.hp1 HG02818.hp2 HG03130.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0001c0016 others(1): Show a0001c0003 a0001c0004 a0001c0016 a0003c0006	a0001c0003t0073 a0001c0004t0028 a0001c0004t0076 others(2): Show a0001c0003t0073 a0001c0004t0028 a0001c0004t0076 a0001c0016t0072 a0003c0006t0012	a0001c0003t0073g0071 a0001c0004t0028g0274 a0001c0004t0076g0244 others(2): Show a0001c0003t0073g0071 a0001c0004t0028g0274 a0001c0004t0076g0244 a0001c0016t0072g0069 a0003c0006t0012g0088	5	316	0.0158	19	c.257 others(38): Show c.2578-6972_2578-6954dupCCCTGACCCCTCCCCATCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHC2_chr19_411589_466033	440088	A A	AACGCCAT others(12): Show AACGCCATGCTCAGTGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(77): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02698.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03688.hp1 HG03688.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18966.hp1 NA18971.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA18999.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19074.hp2 NA19080.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0017 a0002c0012 a0003c0008 a0004c0010 a0005c0009 a0006c0011 a0008c0021 a0009c0015 a0010c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0005t0015 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0017t0005 a0002c0012t0002 a0002c0012t0004 a0003c0008t0003 a0003c0008t0006 a0004c0010t0002 a0005c0009t0005 a0005c0009t0014 a0006c0011t0005 a0008c0021t0002 a0009c0015t0012 a0010c0022t0002	a0001c0001t0001g0061 a0001c0001t0001g0145 a0001c0001t0001g0177 others(74): Show a0001c0001t0001g0061 a0001c0001t0001g0145 a0001c0001t0001g0177 a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0101 a0001c0001t0003g0004 a0001c0001t0003g0036 a0001c0001t0003g0050 a0001c0001t0003g0071 a0001c0001t0003g0171 a0001c0001t0003g0180 a0001c0001t0005g0168 a0001c0001t0006g0034 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0006g0054 a0001c0001t0007g0041 a0001c0001t0016g0070 a0001c0002t0001g0003 a0001c0002t0001g0107 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0169 a0001c0002t0002g0046 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0157 a0001c0002t0004g0088 a0001c0002t0004g0096 a0001c0002t0004g0156 a0001c0003t0001g0058 a0001c0003t0001g0062 a0001c0003t0001g0066 a0001c0003t0001g0113 a0001c0003t0001g0139 a0001c0003t0002g0001 a0001c0003t0002g0060 a0001c0003t0002g0069 a0001c0003t0002g0072 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0078 a0001c0003t0002g0100 a0001c0003t0002g0111 a0001c0003t0002g0150 a0001c0003t0004g0108 a0001c0003t0004g0109 a0001c0003t0004g0110 a0001c0003t0010g0077 a0001c0005t0015g0008 a0001c0006t0001g0020 a0001c0006t0001g0023 a0001c0006t0001g0024 a0001c0006t0002g0018 a0001c0006t0002g0019 a0001c0006t0006g0014 a0001c0017t0005g0056 a0002c0012t0002g0203 a0002c0012t0004g0193 a0003c0008t0003g0183 a0003c0008t0006g0185 a0004c0010t0002g0067 a0004c0010t0002g0068 a0005c0009t0005g0048 a0005c0009t0014g0040 a0006c0011t0005g0059 a0006c0011t0005g0063 a0008c0021t0002g0032 a0009c0015t0012g0027 a0010c0022t0002g0184	80	212	0.3774	19	c.539 others(34): Show c.539+755_539+773dupCTCTCACTGAGCATGGCGT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	2/12			chr19	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0062	1	384	0.0026	19	c.656 others(36): Show c.656+5565_656+5583dupAAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGAAGA others(12): Show GAAGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	302	0.0033	19	c.118 others(38): Show c.1182+4711_1182+4712insTCTTTCTTTCTTTCTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924975	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01361.hp1 HG00735.hp1 HG00741.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0243 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0243	3	302	0.0099	19	c.118 others(38): Show c.1182+4671_1182+4672insCTTTCTTTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02074.hp1 HG02074.hp2 others(4): Show HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02257.hp1 NA18906.hp1 NA18968.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0016 a0003c0004t0001 a0001c0001t0001 a0001c0001t0016 a0003c0004t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0016g0042 a0003c0004t0001g0021	7	184	0.0380	19	c.597 others(36): Show c.597-2174_597-2156dupAAAAAAAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHH_chr7_155794980_155817463	155807188	G G	GGGCGGGA others(12): Show GGGCGGGAGCCTGGGTGGCA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0113 a0001c0001t0009g0113	1	414	0.0024	19	c.301 others(34): Show c.301-650_301-632dupTGCCACCCAGGCTCCCGCC	SHH	ENSG00000164690.8	transcript	ENST00000297261.7	protein_coding	1/2			chr7	TogoVar
SHISA6_chr17_11236213_11569063	11357811	C C	CAAGTCGA others(12): Show CAAGTCGAATTACTAAGCCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0124 a0001c0001t0008g0124	1	192	0.0052	19	c.800 others(38): Show c.800-21599_800-21581dupTCGAATTACTAAGCCAAAG	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11550937	T T	TAAGGCCA others(12): Show TAAGGCCAAAGGCAGGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02258.hp2 NA19240.hp2 HG00639.hp2 HG02258.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0042 a0001c0002t0041 a0001c0001t0008 a0001c0001t0042 a0001c0002t0041	a0001c0001t0008g0136 a0001c0001t0042g0071 a0001c0002t0041g0178 a0001c0001t0008g0136 a0001c0001t0042g0071 a0001c0002t0041g0178	3	192	0.0156	19	c.896 others(34): Show c.896-953_896-935dupCAAAGGCAGGAAAGAAGGC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar

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